Steinlein O, Weiland S, Stoodt J, Propping P
Institute of Human Genetics, University of Bonn, Germany.
Genomics. 1996 Mar 1;32(2):289-94. doi: 10.1006/geno.1996.0119.
The human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4) is located in the candidate region for three different phenotypes: benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, and low-voltage EEG. Recently, a missense mutation in transmembrane domain 2 of CHRNA4 was found to be associated with autosomal dominant nocturnal frontal lobe epilepsy in one extended pedigree. We have determined the genomic organization of CHRNA4, which consists of six exons distributed over approximately 17 kb of genomic DNA. The nucleotide sequence obtained from the genomic regions adjacent to the exon boundaries enabled us to develop a set of primer pairs for PCR amplification of the complete coding region. The sequence analysis provides the basis for a comprehensive mutation screening of CHRNA4 in the above-mentioned phenotypes and possibly in other types of idiopathic epilepsies.
人类神经元烟碱型乙酰胆碱受体α4亚基基因（CHRNA4）位于三种不同表型的候选区域：良性家族性新生儿惊厥、常染色体显性遗传性夜间额叶癫痫和低电压脑电图。最近，在一个大家族中发现CHRNA4跨膜结构域2中的一个错义突变与常染色体显性遗传性夜间额叶癫痫有关。我们已经确定了CHRNA4的基因组结构，它由六个外显子组成，分布在大约17kb的基因组DNA上。从外显子边界相邻的基因组区域获得的核苷酸序列使我们能够开发出一套用于PCR扩增完整编码区的引物对。序列分析为在上述表型以及可能在其他类型的特发性癫痫中对CHRNA4进行全面的突变筛查提供了基础。
